Macrodystrophia lipomatosa: four case reports

Khan, Wahab Shagufta, Ahmad Ibne, Chana

Description

Aim Macrodystrophia lipomatosa is a rare cause of gigantism of limb which can be confused with other common causes like congenital lymphedema. It presents usually with loss of function and cosmetic problems. Four cases are described with emphasis on clinical presentation, differential diagnoses, imaging and treatment options. Methods & Results Four patients of macrodystrophia lipomatosa were thoroughly examined and subjected to investigations. Conclusion Besides diligent clinical examination, imaging and histopathology are crucial in clinching the diagnosis.

Informations

• Publié par: biomed
• Publié le: 01 janvier 2010
• Nombre de lectures: 15
• Langue: English

Extrait

Khanet al.Italian Journal of Pediatrics2010,36:69 http://www.ijponline.net/content/36/1/69

ITALIAN JOURNAL OF PEDIATRICS

R E S E A R C HOpen Access Macrodystrophia lipomatosa: four case reports 1 2*2 1 Rizwan A Khan , Shagufta Wahab, Ibne Ahmad , Rajendra S Chana

Abstract Aim:Macrodystrophia lipomatosa is a rare cause of gigantism of limb which can be confused with other common causes like congenital lymphedema. It presents usually with loss of function and cosmetic problems. Four cases are described with emphasis on clinical presentation, differential diagnoses, imaging and treatment options. Methods & Results:Four patients of macrodystrophia lipomatosa were thoroughly examined and subjected to investigations. Conclusion:Besides diligent clinical examination, imaging and histopathology are crucial in clinching the diagnosis.

Introduction Macrodystrophia lipomatosa, hamartomatous enlarge ment of the soft tissue components leading to localized or generalized gigantism of a limb, is a rare congenital disorder which can present anywhere from infancy to late adulthood. There are various causes which can lead to increased size of one or several fingers or toes. Pre sentation in pediatric age group leads to considerable confusion and till such time when the diagnosis is reached, various descriptive terms are given to such an anomaly [1]. A variety of terms have been used to nomi nate the condition like macrodactyly, megalodactyly, digital gigantism, macromelia, partial acromegaly, macrosomy, and limited gigantism [18]. We present here four cases of the anomaly with the aim to high lighten the clinical features, differential diagnoses and the treatment protocol to be followed in these patients.

Case no.1 A 5yearold girl had a history of steady enlargement of the rightlower limb since birth and mainly the medial three toes of the right foot. There was loss of function but there was no history suggestive of trauma, pain, skin changes or family history. The plain radiographs revealed perceptible increase in the soft tissues elements of the foot. The medial three short bones of the foot appeared a little bulkier but the cortex and their normal

* Correspondence: [e-mail] 2 Dept of Radiodiagnosis, JNMCH, AMU, Aligarh, India Full list of author information is available at the end of the article

form was preserved. Biopsy demonstrated profuse amount of fatty tissue with proliferation of subcutaneous nerves (Table 1).

Case no.2 A 7yearold girl was referred with excessive growth of nd nd the 2toe of the right foot. The 2toe of the right foot was unusually large with an increase in subcuta neous tissue which was visibly more prominent on the ventral aspect (Figure 1). Except for the fact that she had difficulty in walking and recurrent injury to the foot, rest of her history and physical examination was non contributory. Plain radiography of the foot revealed nd enlarged metatarsals and phalanges of the 2toe of the right foot (Figure 2). The soft tissue was also increased. The biopsy was suggestive of lipomatosis infiltrating nerves and mild increase in the fibrous tissue was also noted.

Case no.3 A 6yearold boy presented with enlargement of his left foot. Parents noticed gradual enlargement of the left foot, mainly involving the second and third ray (Figure 3). Initially the boy had difficulty in playing football and later on had problems in putting on his footwear. On examination, there were no integumentary or neurologi nd cal findings. However, there was enlargement of 2and rd 3 toewith sparing of rest of the toes. Xrays revealed mainly the enlargement of the soft tissue part and some increase in size of phalanges (Figure 4). Biopsy revealed encapsulated lobules of well differentiated fatty tissue.

© 2010 Khan et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.